Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.R193R

COASY

242 papers

RefSeq Summary

Coenzyme A (CoA) functions as a carrier of acetyl and acyl groups in cells and thus plays an important role in numerous synthetic and degradative metabolic pathways in all organisms. In eukaryotes, Co...

Pfam Domains

CTP_transf_likeaa 195–339UCSCCytidylyltransferase-like
CoaEaa 359–535UCSCDephospho-CoA kinase

Gene Aliases

HGNC Name

Coenzyme A synthase

HGNC Alias Symbols

DPCK; NBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025233.7
p.R193R
c.579T>C
Surrounding Variants
1 paper
NM_025233.7
p.G194S
c.580G>A
1 paper
NM_025233.7
p.Y191delFs
c.573delC
1 paper
NM_025233.7
p.G197D
c.590G>A
1 paper
NM_025233.7
p.T199_F200del1
c.597_599delGTT
1 paper
NM_025233.7
p.F200del1
c.598_599delTTT
1 paper
NM_025233.7
p.D201N
c.601G>A
1 paper
NM_025233.7
p.L203L
c.609G>T
1 paper
NM_025233.7
p.A181T
c.541G>A
1 paper
NM_025233.7
p.K208R
c.623A>G
1 paper
NM_025233.7
p.S178Y
c.533C>A
1 paper
NM_025233.7
p.L210L
c.628T>C
1 paper
NM_025233.7
p.A177T
c.529G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."